SNP Links for Protein (Select 210147525) - SNP

Links from Protein

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Select item 14902917161.

rs1490291716 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:212988535 (GRCh38)
1:213161877 (GRCh37)
Canonical SPDI:: NC_000001.11:212988534:T:C
Gene:: VASH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.212988535T>C, NC_000001.10:g.213161877T>C, NM_024749.5:c.887T>C, NM_024749.4:c.887T>C, NM_024749.3:c.887T>C, NM_001136474.3:c.824T>C, NM_001136474.2:c.824T>C, NM_001136474.1:c.824T>C, NM_001136475.3:c.707T>C, NM_001136475.2:c.707T>C, NM_001136475.1:c.707T>C, NM_001301056.2:c.1019T>C, NM_001301056.1:c.1019T>C, NP_079025.2:p.Val296Ala, NP_001129946.1:p.Val275Ala, NP_001129947.1:p.Val236Ala, NP_001287985.1:p.Val340Ala

Select item 14899941752.

rs1489994175 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:212966286 (GRCh38)
1:213139628 (GRCh37)
Canonical SPDI:: NC_000001.11:212966285:A:C
Gene:: VASH2 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.212966286A>C, NC_000001.10:g.213139628A>C, NM_001136474.3:c.243A>C, NM_001136474.2:c.243A>C, NM_001136474.1:c.243A>C, NM_001136475.3:c.126A>C, NM_001136475.2:c.126A>C, NM_001136475.1:c.126A>C, NM_001301056.2:c.438A>C, NM_001301056.1:c.438A>C

Select item 14848435823.

rs1484843582 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:212972702 (GRCh38)
1:213146044 (GRCh37)
Canonical SPDI:: NC_000001.11:212972701:T:C
Gene:: VASH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.212972702T>C, NC_000001.10:g.213146044T>C, NM_024749.5:c.488T>C, NM_024749.4:c.488T>C, NM_024749.3:c.488T>C, NM_001136474.3:c.425T>C, NM_001136474.2:c.425T>C, NM_001136474.1:c.425T>C, NM_001136475.3:c.308T>C, NM_001136475.2:c.308T>C, NM_001136475.1:c.308T>C, NM_001301056.2:c.620T>C, NM_001301056.1:c.620T>C, NP_079025.2:p.Leu163Ser, NP_001129946.1:p.Leu142Ser, NP_001129947.1:p.Leu103Ser, NP_001287985.1:p.Leu207Ser

Select item 14842130434.

rs1484213043 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:212961182 (GRCh38)
1:213134524 (GRCh37)
Canonical SPDI:: NC_000001.11:212961181:T:A
Gene:: VASH2 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.212961182T>A, NC_000001.10:g.213134524T>A, NM_024749.5:c.293T>A, NM_024749.4:c.293T>A, NM_024749.3:c.293T>A, NM_001136474.3:c.98T>A, NM_001136474.2:c.98T>A, NM_001136474.1:c.98T>A, NM_001136475.3:c.-20T>A, NM_001136475.2:c.-20T>A, NM_001136475.1:c.-20T>A, NM_001301056.2:c.293T>A, NM_001301056.1:c.293T>A, NP_079025.2:p.Val98Asp, NP_001129946.1:p.Val33Asp, NP_001287985.1:p.Val98Asp

Select item 14827737575.

rs1482773757 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:212961171 (GRCh38)
1:213134513 (GRCh37)
Canonical SPDI:: NC_000001.11:212961170:A:G
Gene:: VASH2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.212961171A>G, NC_000001.10:g.213134513A>G, NM_024749.5:c.282A>G, NM_024749.4:c.282A>G, NM_024749.3:c.282A>G, NM_001136474.3:c.87A>G, NM_001136474.2:c.87A>G, NM_001136474.1:c.87A>G, NM_001136475.3:c.-31A>G, NM_001136475.2:c.-31A>G, NM_001136475.1:c.-31A>G, NM_001301056.2:c.282A>G, NM_001301056.1:c.282A>G

Select item 14809303026.

rs1480930302 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:212972808 (GRCh38)
1:213146150 (GRCh37)
Canonical SPDI:: NC_000001.11:212972807:A:C
Gene:: VASH2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.212972808A>C, NC_000001.10:g.213146150A>C, NM_024749.5:c.594A>C, NM_024749.4:c.594A>C, NM_024749.3:c.594A>C, NM_001136474.3:c.531A>C, NM_001136474.2:c.531A>C, NM_001136474.1:c.531A>C, NM_001136475.3:c.414A>C, NM_001136475.2:c.414A>C, NM_001136475.1:c.414A>C, NM_001301056.2:c.726A>C, NM_001301056.1:c.726A>C

Select item 14768306597.

rs1476830659 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:212974060 (GRCh38)
1:213147402 (GRCh37)
Canonical SPDI:: NC_000001.11:212974059:C:A,NC_000001.11:212974059:C:T
Gene:: VASH2 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.212974060C>A, NC_000001.11:g.212974060C>T, NC_000001.10:g.213147402C>A, NC_000001.10:g.213147402C>T, NM_024749.5:c.853C>A, NM_024749.5:c.853C>T, NM_024749.4:c.853C>A, NM_024749.4:c.853C>T, NM_024749.3:c.853C>A, NM_024749.3:c.853C>T, NM_001136474.3:c.790C>A, NM_001136474.3:c.790C>T, NM_001136474.2:c.790C>A, NM_001136474.2:c.790C>T, NM_001136474.1:c.790C>A, NM_001136474.1:c.790C>T, NM_001136475.3:c.673C>A, NM_001136475.3:c.673C>T, NM_001136475.2:c.673C>A, NM_001136475.2:c.673C>T, NM_001136475.1:c.673C>A, NM_001136475.1:c.673C>T, NM_001301056.2:c.985C>A, NM_001301056.2:c.985C>T, NM_001301056.1:c.985C>A, NM_001301056.1:c.985C>T, NP_079025.2:p.Arg285Ter, NP_001129946.1:p.Arg264Ter, NP_001129947.1:p.Arg225Ter, NP_001287985.1:p.Arg329Ter

Select item 14709734808.

rs1470973480 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:212972891 (GRCh38)
1:213146233 (GRCh37)
Canonical SPDI:: NC_000001.11:212972890:A:G
Gene:: VASH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.212972891A>G, NC_000001.10:g.213146233A>G, NM_024749.5:c.677A>G, NM_024749.4:c.677A>G, NM_024749.3:c.677A>G, NM_001136474.3:c.614A>G, NM_001136474.2:c.614A>G, NM_001136474.1:c.614A>G, NM_001136475.3:c.497A>G, NM_001136475.2:c.497A>G, NM_001136475.1:c.497A>G, NM_001301056.2:c.809A>G, NM_001301056.1:c.809A>G, NP_079025.2:p.Asn226Ser, NP_001129946.1:p.Asn205Ser, NP_001129947.1:p.Asn166Ser, NP_001287985.1:p.Asn270Ser

Select item 14664017589.

rs1466401758 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:212972598 (GRCh38)
1:213145940 (GRCh37)
Canonical SPDI:: NC_000001.11:212972597:G:A
Gene:: VASH2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000001.11:g.212972598G>A, NC_000001.10:g.213145940G>A, NM_024749.5:c.384G>A, NM_024749.4:c.384G>A, NM_024749.3:c.384G>A, NM_001136474.3:c.321G>A, NM_001136474.2:c.321G>A, NM_001136474.1:c.321G>A, NM_001136475.3:c.204G>A, NM_001136475.2:c.204G>A, NM_001136475.1:c.204G>A, NM_001301056.2:c.516G>A, NM_001301056.1:c.516G>A

Select item 146635852410.

rs1466358524 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:212951749 (GRCh38)
1:213125091 (GRCh37)
Canonical SPDI:: NC_000001.11:212951748:C:A,NC_000001.11:212951748:C:T
Gene:: VASH2 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.212951749C>A, NC_000001.11:g.212951749C>T, NC_000001.10:g.213125091C>A, NC_000001.10:g.213125091C>T, NM_024749.5:c.207C>A, NM_024749.5:c.207C>T, NM_024749.4:c.207C>A, NM_024749.4:c.207C>T, NM_024749.3:c.207C>A, NM_024749.3:c.207C>T, NM_001136474.3:c.12C>A, NM_001136474.3:c.12C>T, NM_001136474.2:c.12C>A, NM_001136474.2:c.12C>T, NM_001136474.1:c.12C>A, NM_001136474.1:c.12C>T, NM_001301056.2:c.207C>A, NM_001301056.2:c.207C>T, NM_001301056.1:c.207C>A, NM_001301056.1:c.207C>T, NP_079025.2:p.His69Gln, NP_001129946.1:p.His4Gln, NP_001287985.1:p.His69Gln

Select item 145972256311.

rs1459722563 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:212972873 (GRCh38)
1:213146215 (GRCh37)
Canonical SPDI:: NC_000001.11:212972872:G:A
Gene:: VASH2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.212972873G>A, NC_000001.10:g.213146215G>A, NM_024749.5:c.659G>A, NM_024749.4:c.659G>A, NM_024749.3:c.659G>A, NM_001136474.3:c.596G>A, NM_001136474.2:c.596G>A, NM_001136474.1:c.596G>A, NM_001136475.3:c.479G>A, NM_001136475.2:c.479G>A, NM_001136475.1:c.479G>A, NM_001301056.2:c.791G>A, NM_001301056.1:c.791G>A, NP_079025.2:p.Trp220Ter, NP_001129946.1:p.Trp199Ter, NP_001129947.1:p.Trp160Ter, NP_001287985.1:p.Trp264Ter

Select item 145733343212.

rs1457333432 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:212972791 (GRCh38)
1:213146133 (GRCh37)
Canonical SPDI:: NC_000001.11:212972790:A:G
Gene:: VASH2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.212972791A>G, NC_000001.10:g.213146133A>G, NM_024749.5:c.577A>G, NM_024749.4:c.577A>G, NM_024749.3:c.577A>G, NM_001136474.3:c.514A>G, NM_001136474.2:c.514A>G, NM_001136474.1:c.514A>G, NM_001136475.3:c.397A>G, NM_001136475.2:c.397A>G, NM_001136475.1:c.397A>G, NM_001301056.2:c.709A>G, NM_001301056.1:c.709A>G, NP_079025.2:p.Lys193Glu, NP_001129946.1:p.Lys172Glu, NP_001129947.1:p.Lys133Glu, NP_001287985.1:p.Lys237Glu

Select item 145724568513.

rs1457245685 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:212951780 (GRCh38)
1:213125122 (GRCh37)
Canonical SPDI:: NC_000001.11:212951779:A:G
Gene:: VASH2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.212951780A>G, NC_000001.10:g.213125122A>G, NM_024749.5:c.238A>G, NM_024749.4:c.238A>G, NM_024749.3:c.238A>G, NM_001136474.3:c.43A>G, NM_001136474.2:c.43A>G, NM_001136474.1:c.43A>G, NM_001301056.2:c.238A>G, NM_001301056.1:c.238A>G, NP_079025.2:p.Met80Val, NP_001129946.1:p.Met15Val, NP_001287985.1:p.Met80Val

Select item 144845073714.

rs1448450737 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:212974056 (GRCh38)
1:213147398 (GRCh37)
Canonical SPDI:: NC_000001.11:212974055:C:T
Gene:: VASH2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000056/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.212974056C>T, NC_000001.10:g.213147398C>T, NM_024749.5:c.849C>T, NM_024749.4:c.849C>T, NM_024749.3:c.849C>T, NM_001136474.3:c.786C>T, NM_001136474.2:c.786C>T, NM_001136474.1:c.786C>T, NM_001136475.3:c.669C>T, NM_001136475.2:c.669C>T, NM_001136475.1:c.669C>T, NM_001301056.2:c.981C>T, NM_001301056.1:c.981C>T

Select item 144602979715.

rs1446029797 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:212965729 (GRCh38)
1:213139071 (GRCh37)
Canonical SPDI:: NC_000001.11:212965728:C:T
Gene:: VASH2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.212965729C>T, NC_000001.10:g.213139071C>T, NM_001136474.3:c.178C>T, NM_001136474.2:c.178C>T, NM_001136474.1:c.178C>T, NM_001136475.3:c.61C>T, NM_001136475.2:c.61C>T, NM_001136475.1:c.61C>T, NM_001301056.2:c.373C>T, NM_001301056.1:c.373C>T, NP_001129946.1:p.His60Tyr, NP_001129947.1:p.His21Tyr, NP_001287985.1:p.His125Tyr

Select item 144395563916.

rs1443955639 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:212973965 (GRCh38)
1:213147307 (GRCh37)
Canonical SPDI:: NC_000001.11:212973964:C:G
Gene:: VASH2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.212973965C>G, NC_000001.10:g.213147307C>G, NM_024749.5:c.758C>G, NM_024749.4:c.758C>G, NM_024749.3:c.758C>G, NM_001136474.3:c.695C>G, NM_001136474.2:c.695C>G, NM_001136474.1:c.695C>G, NM_001136475.3:c.578C>G, NM_001136475.2:c.578C>G, NM_001136475.1:c.578C>G, NM_001301056.2:c.890C>G, NM_001301056.1:c.890C>G, NP_079025.2:p.Pro253Arg, NP_001129946.1:p.Pro232Arg, NP_001129947.1:p.Pro193Arg, NP_001287985.1:p.Pro297Arg

Select item 144279907917.

rs1442799079 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:212972903 (GRCh38)
1:213146245 (GRCh37)
Canonical SPDI:: NC_000001.11:212972902:T:C
Gene:: VASH2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.212972903T>C, NC_000001.10:g.213146245T>C, NM_024749.5:c.689T>C, NM_024749.4:c.689T>C, NM_024749.3:c.689T>C, NM_001136474.3:c.626T>C, NM_001136474.2:c.626T>C, NM_001136474.1:c.626T>C, NM_001136475.3:c.509T>C, NM_001136475.2:c.509T>C, NM_001136475.1:c.509T>C, NM_001301056.2:c.821T>C, NM_001301056.1:c.821T>C, NP_079025.2:p.Met230Thr, NP_001129946.1:p.Met209Thr, NP_001129947.1:p.Met170Thr, NP_001287985.1:p.Met274Thr

Select item 143501421818.

rs1435014218 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:212961252 (GRCh38)
1:213134594 (GRCh37)
Canonical SPDI:: NC_000001.11:212961251:A:G
Gene:: VASH2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.212961252A>G, NC_000001.10:g.213134594A>G, NM_024749.5:c.363A>G, NM_024749.4:c.363A>G, NM_024749.3:c.363A>G, NM_001136474.3:c.168A>G, NM_001136474.2:c.168A>G, NM_001136474.1:c.168A>G, NM_001136475.3:c.51A>G, NM_001136475.2:c.51A>G, NM_001136475.1:c.51A>G, NM_001301056.2:c.363A>G, NM_001301056.1:c.363A>G

Select item 143153284919.

rs1431532849 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:212966337 (GRCh38)
1:213139679 (GRCh37)
Canonical SPDI:: NC_000001.11:212966336:C:T
Gene:: VASH2 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000045/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
T=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.212966337C>T, NC_000001.10:g.213139679C>T, NM_001136474.3:c.294C>T, NM_001136474.2:c.294C>T, NM_001136474.1:c.294C>T, NM_001136475.3:c.177C>T, NM_001136475.2:c.177C>T, NM_001136475.1:c.177C>T, NM_001301056.2:c.489C>T, NM_001301056.1:c.489C>T

Select item 142699523320.

rs1426995233 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:212951758 (GRCh38)
1:213125100 (GRCh37)
Canonical SPDI:: NC_000001.11:212951757:G:A
Gene:: VASH2 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.212951758G>A, NC_000001.10:g.213125100G>A, NM_024749.5:c.216G>A, NM_024749.4:c.216G>A, NM_024749.3:c.216G>A, NM_001136474.3:c.21G>A, NM_001136474.2:c.21G>A, NM_001136474.1:c.21G>A, NM_001301056.2:c.216G>A, NM_001301056.1:c.216G>A

dbSNP

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